Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186209227C>A | CA358950628 | CYP4V2,KLKB1 | c.1360C>A (p.Pro454Thr) n.595C>A n.6058C>A c.156C>A n.450C>A c.1357C>A (p.Pro453Thr) c.964C>A (p.Pro322Thr) | |
4 | g.186209227C>G | CA358950627 | CYP4V2,KLKB1 | c.1360C>G (p.Pro454Ala) n.595C>G n.6058C>G c.156C>G n.450C>G c.1357C>G (p.Pro453Ala) c.964C>G (p.Pro322Ala) | |
4 | g.186209227C>T | CA358950626 | CYP4V2,KLKB1 | c.1360C>T (p.Pro454Ser) n.595C>T n.6058C>T c.156C>T n.450C>T c.1357C>T (p.Pro453Ser) c.964C>T (p.Pro322Ser) | |
4 | g.186209228C>A | CA358950629 | CYP4V2,KLKB1 | c.1361C>A (p.Pro454Gln) n.596C>A n.6059C>A c.157C>A n.451C>A c.1358C>A (p.Pro453Gln) c.965C>A (p.Pro322Gln) | |
4 | g.186209228C= | CA1519891480 | CYP4V2,KLKB1 | c.1361C= (p.Pro454=) n.596C= n.6059C= c.157C= n.451C= c.1358C= (p.Pro453=) c.965C= (p.Pro322=) | |
4 | g.186209228C>G | CA358950630 | CYP4V2,KLKB1 | c.1361C>G (p.Pro454Arg) n.596C>G n.6059C>G c.157C>G n.451C>G c.1358C>G (p.Pro453Arg) c.965C>G (p.Pro322Arg) | |
4 | g.186209228C>T | CA358950631 | CYP4V2,KLKB1 | c.1361C>T (p.Pro454Leu) n.596C>T n.6059C>T c.157C>T n.451C>T c.1358C>T (p.Pro453Leu) c.965C>T (p.Pro322Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209229A= | CA1519891481 | CYP4V2,KLKB1 | c.1362A= (p.Pro454=) n.597A= n.6060A= c.158A= n.452A= c.1359A= (p.Pro453=) c.966A= (p.Pro322=) | |
4 | g.186209229A>C | CA442882835 | CYP4V2,KLKB1 | c.1362A>C (p.Pro454=) n.597A>C n.6060A>C c.158A>C n.452A>C c.1359A>C (p.Pro453=) c.966A>C (p.Pro322=) | |
4 | g.186209229A>G | CA112135232 | CYP4V2,KLKB1 | c.1362A>G (p.Pro454=) n.597A>G n.6060A>G c.158A>G n.452A>G c.1359A>G (p.Pro453=) c.966A>G (p.Pro322=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209229A>T | CA442882838 | CYP4V2,KLKB1 | c.1362A>T (p.Pro454=) n.597A>T n.6060A>T c.158A>T n.452A>T c.1359A>T (p.Pro453=) c.966A>T (p.Pro322=) | |
4 | g.186209230T>A | CA358950632 | CYP4V2,KLKB1 | c.1363T>A (p.Tyr455Asn) n.598T>A n.6061T>A c.159T>A n.453T>A c.1360T>A (p.Tyr454Asn) c.967T>A (p.Tyr323Asn) | |
4 | g.186209230T>C | CA358950633 | CYP4V2,KLKB1 | c.1363T>C (p.Tyr455His) n.598T>C n.6061T>C c.159T>C n.453T>C c.1360T>C (p.Tyr454His) c.967T>C (p.Tyr323His) | |
4 | g.186209230T>G | CA358950634 | CYP4V2,KLKB1 | c.1363T>G (p.Tyr455Asp) n.598T>G n.6061T>G c.159T>G n.453T>G c.1360T>G (p.Tyr454Asp) c.967T>G (p.Tyr323Asp) | |
4 | g.186209231A>C | CA358950635 | CYP4V2,KLKB1 | c.1364A>C (p.Tyr455Ser) n.599A>C n.6062A>C c.160A>C n.454A>C c.1361A>C (p.Tyr454Ser) c.968A>C (p.Tyr323Ser) | |
4 | g.186209231A>G | CA358950637 | CYP4V2,KLKB1 | c.1364A>G (p.Tyr455Cys) n.599A>G n.6062A>G c.160A>G n.454A>G c.1361A>G (p.Tyr454Cys) c.968A>G (p.Tyr323Cys) | |
4 | g.186209231A>T | CA358950636 | CYP4V2,KLKB1 | c.1364A>T (p.Tyr455Phe) n.599A>T n.6062A>T c.160A>T n.454A>T c.1361A>T (p.Tyr454Phe) c.968A>T (p.Tyr323Phe) | gnomAD v4 |
4 | g.186209232T>A | CA358950638 | CYP4V2,KLKB1 | c.1365T>A (p.Tyr455Ter) n.600T>A n.6063T>A c.161T>A n.455T>A c.1362T>A (p.Tyr454Ter) c.969T>A (p.Tyr323Ter) | |
4 | g.186209232T>C | CA442882849 | CYP4V2,KLKB1 | c.1365T>C (p.Tyr455=) n.600T>C n.6063T>C c.161T>C n.455T>C c.1362T>C (p.Tyr454=) c.969T>C (p.Tyr323=) | dbSNP |
4 | g.186209232T>G | CA358950639 | CYP4V2,KLKB1 | c.1365T>G (p.Tyr455Ter) n.600T>G n.6063T>G c.161T>G n.455T>G c.1362T>G (p.Tyr454Ter) c.969T>G (p.Tyr323Ter) | |
4 | g.186209232T= | CA1519891482 | CYP4V2,KLKB1 | c.1365T= (p.Tyr455=) n.600T= n.6063T= c.161T= n.455T= c.1362T= (p.Tyr454=) c.969T= (p.Tyr323=) | |
4 | g.186209233G>A | CA358950640 | CYP4V2,KLKB1 | c.1366G>A (p.Ala456Thr) n.601G>A n.6064G>A c.162G>A n.456G>A c.1363G>A (p.Ala455Thr) c.970G>A (p.Ala324Thr) | |
4 | g.186209233G>C | CA358950641 | CYP4V2,KLKB1 | c.1366G>C (p.Ala456Pro) n.601G>C n.6064G>C c.162G>C n.456G>C c.1363G>C (p.Ala455Pro) c.970G>C (p.Ala324Pro) | |
4 | g.186209233G>T | CA358950642 | CYP4V2,KLKB1 | c.1366G>T (p.Ala456Ser) n.601G>T n.6064G>T c.162G>T n.456G>T c.1363G>T (p.Ala455Ser) c.970G>T (p.Ala324Ser) | |
4 | g.186209234C>A | CA358950643 | CYP4V2,KLKB1 | c.1367C>A (p.Ala456Asp) n.602C>A n.6065C>A c.163C>A n.457C>A c.1364C>A (p.Ala455Asp) c.971C>A (p.Ala324Asp) | |
4 | g.186209234C= | CA1519891483 | CYP4V2,KLKB1 | c.1367C= (p.Ala456=) n.602C= n.6065C= c.163C= n.457C= c.1364C= (p.Ala455=) c.971C= (p.Ala324=) | |
4 | g.186209234C>G | CA3162842 | CYP4V2,KLKB1 | c.1367C>G (p.Ala456Gly) n.602C>G n.6065C>G c.163C>G n.457C>G c.1364C>G (p.Ala455Gly) c.971C>G (p.Ala324Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209234C>T | CA358950644 | CYP4V2,KLKB1 | c.1367C>T (p.Ala456Val) n.602C>T n.6065C>T c.163C>T n.457C>T c.1364C>T (p.Ala455Val) c.971C>T (p.Ala324Val) | |
4 | g.186209235C>A | CA442882862 | CYP4V2,KLKB1 | c.1368C>A (p.Ala456=) n.603C>A n.6066C>A c.164C>A n.458C>A c.1365C>A (p.Ala455=) c.972C>A (p.Ala324=) | |
4 | g.186209235C>G | CA442882864 | CYP4V2,KLKB1 | c.1368C>G (p.Ala456=) n.603C>G n.6066C>G c.164C>G n.458C>G c.1365C>G (p.Ala455=) c.972C>G (p.Ala324=) | |
4 | g.186209235C>T | CA442882866 | CYP4V2,KLKB1 | c.1368C>T (p.Ala456=) n.603C>T n.6066C>T c.164C>T n.458C>T c.1365C>T (p.Ala455=) c.972C>T (p.Ala324=) | ClinVar dbSNP |
4 | g.186209236T>A | CA358950645 | CYP4V2,KLKB1 | c.1369T>A (p.Tyr457Asn) n.604T>A n.6067T>A c.165T>A n.459T>A c.1366T>A (p.Tyr456Asn) c.973T>A (p.Tyr325Asn) | |
4 | g.186209236T>C | CA358950646 | CYP4V2,KLKB1 | c.1369T>C (p.Tyr457His) n.604T>C n.6067T>C c.165T>C n.459T>C c.1366T>C (p.Tyr456His) c.973T>C (p.Tyr325His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209236T>G | CA358950647 | CYP4V2,KLKB1 | c.1369T>G (p.Tyr457Asp) n.604T>G n.6067T>G c.165T>G n.459T>G c.1366T>G (p.Tyr456Asp) c.973T>G (p.Tyr325Asp) | |
4 | g.186209236T= | CA1519891484 | CYP4V2,KLKB1 | c.1369T= (p.Tyr457=) n.604T= n.6067T= c.165T= n.459T= c.1366T= (p.Tyr456=) c.973T= (p.Tyr325=) | |
4 | g.186209237A= | CA1519891485 | CYP4V2,KLKB1 | c.1370A= (p.Tyr457=) n.605A= n.6068A= c.166A= n.460A= c.1367A= (p.Tyr456=) c.974A= (p.Tyr325=) | |
4 | g.186209237A>C | CA358950649 | CYP4V2,KLKB1 | c.1370A>C (p.Tyr457Ser) n.605A>C n.6068A>C c.166A>C n.460A>C c.1367A>C (p.Tyr456Ser) c.974A>C (p.Tyr325Ser) | |
4 | g.186209237A>G | CA3162843 | CYP4V2,KLKB1 | c.1370A>G (p.Tyr457Cys) n.605A>G n.6068A>G c.166A>G n.460A>G c.1367A>G (p.Tyr456Cys) c.974A>G (p.Tyr325Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186209237A>T | CA358950648 | CYP4V2,KLKB1 | c.1370A>T (p.Tyr457Phe) n.605A>T n.6068A>T c.166A>T n.460A>T c.1367A>T (p.Tyr456Phe) c.974A>T (p.Tyr325Phe) | gnomAD v4 |
4 | g.186209237dup | CA2672897762 | CYP4V2,KLKB1 | c.1370dup (p.Tyr457Ter) n.605dup n.6068dup c.166dup n.460dup c.1367dup (p.Tyr456Ter) c.974dup (p.Tyr325Ter) | gnomAD v4 |
4 | g.186209238C>A | CA358950650 | CYP4V2,KLKB1 | c.1371C>A (p.Tyr457Ter) n.606C>A n.6069C>A c.167C>A n.461C>A c.1368C>A (p.Tyr456Ter) c.975C>A (p.Tyr325Ter) | |
4 | g.186209238C= | CA1519891486 | CYP4V2,KLKB1 | c.1371C= (p.Tyr457=) n.606C= n.6069C= c.167C= n.461C= c.1368C= (p.Tyr456=) c.975C= (p.Tyr325=) | |
4 | g.186209238C>G | CA358950651 | CYP4V2,KLKB1 | c.1371C>G (p.Tyr457Ter) n.606C>G n.6069C>G c.167C>G n.461C>G c.1368C>G (p.Tyr456Ter) c.975C>G (p.Tyr325Ter) | |
4 | g.186209238C>T | CA3162844 | CYP4V2,KLKB1 | c.1371C>T (p.Tyr457=) n.606C>T n.6069C>T c.167C>T n.461C>T c.1368C>T (p.Tyr456=) c.975C>T (p.Tyr325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>A | CA3162845 | CYP4V2,KLKB1 | c.1372G>A (p.Val458Met) n.607G>A n.6070G>A c.168G>A n.462G>A c.1369G>A (p.Val457Met) c.976G>A (p.Val326Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209239G>C | CA358950652 | CYP4V2,KLKB1 | c.1372G>C (p.Val458Leu) n.607G>C n.6070G>C c.168G>C n.462G>C c.1369G>C (p.Val457Leu) c.976G>C (p.Val326Leu) | |
4 | g.186209239G= | CA1519891487 | CYP4V2,KLKB1 | c.1372G= (p.Val458=) n.607G= n.6070G= c.168G= n.462G= c.1369G= (p.Val457=) c.976G= (p.Val326=) | |
4 | g.186209239G>T | CA358950653 | CYP4V2,KLKB1 | c.1372G>T (p.Val458Leu) n.607G>T n.6070G>T c.168G>T n.462G>T c.1369G>T (p.Val457Leu) c.976G>T (p.Val326Leu) | |
4 | g.186209240T>A | CA358950654 | CYP4V2,KLKB1 | c.1373T>A (p.Val458Glu) n.608T>A n.6071T>A c.169T>A n.463T>A c.1370T>A (p.Val457Glu) c.977T>A (p.Val326Glu) | |
4 | g.186209240T>C | CA358950655 | CYP4V2,KLKB1 | c.1373T>C (p.Val458Ala) n.608T>C n.6071T>C c.169T>C n.463T>C c.1370T>C (p.Val457Ala) c.977T>C (p.Val326Ala) |